Variant report

Variant	nsv1044583
Chromosome Location	chr11:24772936-24831557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:24581046..24581849-chr11:24814221..24814913,2	MCF-7	breast:
2	chr11:24809134..24811557-chr11:24813025..24815138,2	MCF-7	breast:
3	chr11:24802835..24803539-chr11:25755478..25755981,2	MCF-7	breast:
4	chr11:24809134..24811557-chr11:24813025..24815138,2	MCF-7	breast:
5	chr11:24802681..24803507-chr11:25755699..25756641,3	MCF-7	breast:
6	chr11:24801274..24801786-chr11:25755056..25755745,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254456	chromatin interactions

Extended variants
information (count: 1074 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1074 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562793428	chr11:24772963-24772964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550037343	chr11:24772998-24772999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570038607	chr11:24773021-24773022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184115749	chr11:24773043-24773044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529414794	chr11:24773066-24773067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549566620	chr11:24773089-24773090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1564995	chr11:24773107-24773108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535115154	chr11:24773109-24773110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113445101	chr11:24773118-24773119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78484902	chr11:24773144-24773145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571653696	chr11:24773181-24773182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11028138	chr11:24773182-24773183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11028139	chr11:24773198-24773199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573993815	chr11:24773227-24773228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369136790	chr11:24773255-24773256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188332952	chr11:24773280-24773281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148528647	chr11:24773290-24773291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373528673	chr11:24773348-24773349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568501216	chr11:24773374-24773375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192219064	chr11:24773413-24773414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12787177	chr11:24773460-24773461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184500382	chr11:24773462-24773463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190234392	chr11:24773538-24773539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543822117	chr11:24773540-24773541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535550342	chr11:24773623-24773624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527353055	chr11:24773671-24773672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12270550	chr11:24773723-24773724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192636109	chr11:24773728-24773729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549459270	chr11:24773730-24773731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566253514	chr11:24773731-24773732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528714916	chr11:24773741-24773742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147822068	chr11:24773759-24773760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571783993	chr11:24773770-24773771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12270592	chr11:24773793-24773794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531322827	chr11:24773843-24773844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557395501	chr11:24773847-24773848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75744382	chr11:24773861-24773862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576718382	chr11:24773864-24773865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549557283	chr11:24773865-24773866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376135944	chr11:24773873-24773874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555373925	chr11:24773904-24773905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573885109	chr11:24773912-24773913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568687984	chr11:24773936-24773937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184511856	chr11:24773937-24773938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553023679	chr11:24773955-24773956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141489910	chr11:24773998-24773999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111883081	chr11:24774000-24774001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534481282	chr11:24774019-24774020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10834475	chr11:24774037-24774038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs189174906	chr11:24774039-24774040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24769000-24779000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:24769800-24776600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:24772800-24773000	Enhancers	Esophagus	oesophagus
4	chr11:24776000-24776200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:24776200-24776800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:24776200-24777000	Enhancers	NHEK	skin
7	chr11:24776200-24777400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:24776200-24777600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:24776200-24778000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr11:24776400-24778000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:24776600-24777400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:24776800-24777400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:24776800-24777800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:24776800-24777800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:24777000-24777600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:24777200-24777600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:24777400-24778400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr11:24777600-24778400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:24777600-24781800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:24777800-24778600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:24778400-24778600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:24781800-24782000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:24782200-24783000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:24782800-24783200	Enhancers	Primary B cells from peripheral blood	blood
25	chr11:24788800-24789400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr11:24795000-24795400	Enhancers	Hela-S3	cervix
27	chr11:24803000-24804200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr11:24803000-24805600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:24803200-24804000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr11:24803200-24804600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:24803400-24803800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:24803400-24804000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:24803400-24804200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:24803400-24804200	Enhancers	Fetal Intestine Large	intestine
35	chr11:24803600-24805200	Enhancers	Fetal Heart	heart
36	chr11:24803800-24804200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr11:24803800-24804400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:24804000-24805200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:24804200-24805200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:24804200-24805200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:24804200-24805400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:24805200-24805400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr11:24805200-24805600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr11:24805200-24805600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr11:24805200-24805600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:24805400-24805600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:24805600-24805800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr11:24814200-24814600	Enhancers	Fetal Intestine Large	intestine
49	chr11:24814200-24816200	Enhancers	Fetal Heart	heart
50	chr11:24814400-24814800	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links